Nine-year-old Julia Degnan likes to keep busy. Whether she’s chasing a ball with her Dracut travel soccer team, hanging out with her younger sister, Mackenzie, or strumming a guitar alongside a music therapist at Tufts Children's Hospital, Julia knows the importance of playtime. For Julia, born with an inherited connective tissue disorder called Ehlers-Danlos syndrome (EDS), physical activity is also good medicine—strengthening muscles and stabilizing hypermobile joints.
A visit to the ENT
So, it came as a surprise when Julia’s active lifestyle was temporarily sidelined in early 2017. She felt dizzy and told her mother, Bethany, that her hearing seemed off. “Julia is deaf in one ear and wears hearing aids,” explained Bethany. “I wondered if the dizziness was related to her hearing loss.” She scheduled an appointment with Julia’s otolaryngologist Mark Vecchiotti, MD, Chief of Pediatric Otolaryngology at Tufts Children's Hospital.
Dr. Vecchiotti performed a hearing exam and declared that everything checked out fine. “He asked if we had ever consulted a cardiologist to make sure the tissues around Julia’s heart were OK. Children with Ehlers-Danlos can have related cardiac issues,” said Bethany who was also born with EDS and had several EDS-related orthopedic surgeries as a child at Tufts Children's. Today, both mother and daughter manage the disorder well. Julia continues to be followed by orthopedics and genetics.
Congenital heart defect diagnosis
Julia was referred to pediatric cardiologist Michael de Moor, MD at Tufts Medical Center - Pediatric Specialty Center in Chelmsford. Dr. de Moor ordered an electrocardiogram (EKG) to evaluate the heart’s electrical system and an echocardiogram (echo) to assess the heart’s structure and measure blood flow. While the tissues surrounding the heart tested normal, Dr. de Moor detected an atrial septal defect (ASD), an abnormal opening or "hole" in the wall (the atrial septum) that separates the two upper chambers of the heart.
Of the chain of events that led to Julia’s congenital heart defect diagnosis, Dr. de Moor said, “It’s not unusual that we discover ASDs incidentally. It’s wise to address them early to prevent later complications. Kids can be asymptomatic until adulthood when serious problems might arise. The right-sided heart chambers can get more dilated and lead to heart rhythm issues. More rarely, a blood clot in the venous system can travel from the right side of the heart to the left and cause a stroke. It’s unusual, but a concern. Very rarely an ASD can lead to high blood pressure in the lungs which is very serious.”
ASD repair without surgery
“I was scared and nervous,” said Bethany of her daughter’s diagnosis, noting that she also has an ASD herself but one that is very small and does not require intervention. According to Dr. de Moor, large ASD holes typically require open heart surgery. Moderate-sized openings, such as Julia’s, are ideal for repair by a minimally invasive, non-surgical procedure called transcatheter occlusion.
The procedure took place in the Tufts Children's Hospital Pediatric Catheterization Suite. Julia was a bit anxious but Child Life Services, Nursing and Anesthesiology staff explained everything and kept her calm. Dr. de Moor said the one-and-a-half-hour procedure involved placing an ASD closure device into the heart via the femoral vein through tubes called catheters. An ultrasound probe was guided down the esophagus where it gave images of the heart, enabling accurate device placement.
Escape to Ace’s Place
During her two-day hospitalization, Julia enjoyed a visit from a Lucy’s Love Bus music therapist and a chance to play the guitar. She visited Ace’s Place on the eighth floor. Designed to be a comfortable retreat for children of all ages, Ace’s Place was a welcome escape for Julia, a place where she could enjoy just being a kid.
“The playroom is staffed by child life specialists,” said Andrea Colliton, Director of Child Life Services. “It’s a perfect get-away for kids and families who are staying overnight as well as families who have extended waits between outpatient appointments.”
The playroom is stocked with toys and games that appeal to infants, toddlers, school-aged children and teens. Attached to Ace's Place Playroom is the Healing Garden, a greenery-filled outdoor environment where patients can get fresh air and sunshine, weather permitting.
Discharge and readmission
Julia returned to the Chelmsford center one week later for a follow-up cardiology appointment. “The echo showed the possibility of a blood clot on the ASD closure device. We were told to bring Julia immediately to the Emergency Room,” said Bethany.
Patient census was high and there was no space available on the medical units so Julia was admitted to the five-bed Neely Bone Marrow Transplant Unit. Children on the transplant unit typically have weakened immune systems due to cancer and other blood disorders. They are not able to leave their rooms. Instead, toys stored in the unit’s small playroom are scrupulously cleaned before being brought to the bedside. The unit is equipped with a HEPA-filter that purifies the air and the infection control policy is strict.
While Julia awaited the results of tests, she remained in her room, wishing she could visit Ace’s Place. “She wasn’t allowed to leave her room because she might transport germs back to the unit,” said Bethany. “We talked about the kids on the floor and how sick they were. The children really impacted Julia and she wanted to help them.”
Lemonade stand goes viral
Julia left Tufts Children's with a good prognosis – the clot was no longer visible. She was put on a two-week regimen of blood thinners which Bethany and her husband, Brian, administered twice a day by injection. At Julia’s next visit with Dr. de Moor, she switched to a six-month prescription of aspirin.
Though Julia’s medical ordeal was over, the children on Tufts Children's’s bone marrow unit remained in her heart. “Julia came up with the idea of a lemonade stand to raise money to purchase toys for the unit,” said Bethany.
In August, Julia, her sister and three cousins held the lemonade stand outside her aunt’s home in Dracut. “I posted an announcement on my Facebook page and Dracut’s yard sale page. It took off from there. People shared my post and showed up with donations of money and toys,” marveled Bethany.
Julia raised $1,200 from the stand and another $300 from the Dracut Rotary Club who honored her with a service award.
Donations for Kids’ Causes
With her monetary donations, Julia contributed to Lucy’s Love Bus and to the Adam Keenan Foundation, a fund for a family friend who suffered a fatal cardiac event while playing baseball.
She purchased five Kindles—enough for every room on the Neely Bone Marrow Unit—and donated a variety of toys. “Kindles are perfect for our patients and families,” said Andrea. “The ones Julia donated offer Wi-Fi as well as games, tv shows, movies and books. Even though our kids can’t leave their rooms, they can escape for a little bit.” Julia made that happen.
The Degnan family hopes the lemonade stand will become an annual summer event.
To join their cause, consider donating Amazon gift cards to Child Life Services to enable more Kindle download purchases. Contact Andrea Colliton at firstname.lastname@example.org.